AutismKB 2.0

View Variant Prediction


Notes:
*iFish(Wang M, Wei L, PIMD: 27527004) is a supporting vector machine (SVM) based classifier which uses gene and gene family specific attributes.
iFish utilized customized prediction cutoff for each classifier that maximizes the sum of sensitivity andspecificity.

Gene Symbol Chr Position refNT altNT transcript iFish Probability iFish Prediction SIFT Polyhen2_HDIV Polyhen2_HVAR
DENND4A 15 66048521 A G NM_001144823 0.9726 deleterious 0 1 0.998
MEGF11 15 66198459 G A NM_032445 0.4317 neutral 0 0.97 0.27
MEGF11 15 66210324 A G NM_032445 0.0465 neutral 0 0.001 0.015
MAP2K1 15 66729163 C T NM_002755 0.9638 deleterious 0.03 1 0.999
MAP2K5 15 67985878 C T NM_001206804 0.2061 neutral 0 0 0
PIAS1 15 68378807 G A NM_016166 0.9931 deleterious 0.18 0.669 0.079
UACA 15 70957107 T C NM_001008224 0.0636 neutral 0 0.121 0.041
UACA 15 70959422 C A NM_001008224 0.0263 neutral 0 0.889 0.718
THSD4 15 72050341 C T NM_001286429 0.2751 neutral 0 0 0
MYO9A 15 72189952 T A NM_006901 0.3532 neutral 0.19 0.925 0.491
EDC3 15 74948257 A G NM_001142443 0.9216 deleterious 0 0 0
MPI 15 75189886 G A NM_001289157 0.0545 neutral 0.38 0 0
SIN3A 15 75684849 G A NM_001145357 0.7894 deleterious 0.49 0 0
SIN3A 15 75692422 A G NM_001145357 0.888 deleterious 0.08 0 0
SCAPER 15 76726486 T C NM_020843 0.0225 neutral 0 0 0
SCAPER 15 77020940 C T NM_001145923 0.8388 deleterious 0 1 0.994
TBC1D2B 15 78337303 C T NM_015079 0.2243 neutral 0 0.982 0.508
SH2D7 15 78393352 C T NM_001101404 0.121 neutral 0.03 0.993 0.446
IREB2 15 78782973 A G NM_004136 0.0014 neutral 0.29 0 0
CHRNA3 15 78909435 T C NM_000743 0.9234 deleterious 0 1 0.993

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Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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